[Study of three common mitochondrial mutations in Arab patients with nonsyndromic hearing loss in Khuzestan province, I.R.Iran]

Hearing Impairment [HI] is the most prevalent neurosensory disorder occurs in 1/1000 newborn. The majority of hearing deficiencies are of genetic origin. About%0-2 of the genetic HI cases are due to mutations in mitochondrial genes. In the present study we investigated the frequency of 3 mtDNA A1555G, A3243G and A7445G mutation of 62 patients with nonsyndromic hearing loss in Khuzestan province. In this descriptive study, we investigated the presence of three mitochondrial mutations; A1555G, A3243G and A7445G in 62 Arab subjects with autosomal recessive non syndromic hearing loss in Khuzestan province. DNA was extracted using standard phenol -chloroform method. The screening of the mitochondrial gene mutations was performed by PCR-RFLP procedure.The possible mutations were confirmed by direct sequencing. None of the investigated mutations; A1555G, A3243G and A7445G were detected in this study. However PCR-RFLP revealed two mutations; G3316A, A7445C in 2 deaf subjects studied. This study is shown that mtDNA mutations consist of G3316A and A7445C are responsible for few of ARNSHL in sample studied and none of the A1555G, A3243G and A7445G mutations are responsible for ARNSHL in this population. The data presented here will improve the genetic counseling of hearing impaired patients in Khuzestan province

[ protective effect of FXIII Val34Leu polymorphism against deep vein thrombosis: a report from Iranian Blood Transfusion Organization [IBTO]]

The coagulation factor XIII is a pro-transglutaminase enzyme with tetrameric structure. An exchange of G for A in exon 2 of A subunit results in replacement of valine with leucine in amino acid 34. As a result of this substitution mutation, the clots produced are fragile and loose therefore it seems that FXIII Val34Leu polymorphism acts as a factor for individual protection against thrombosis Objectives: To determine the prevalence and role of FXIIIA Val34Leu polymorphism against deep vein thrombosis. This was a retrospective case-control study performed on 116 patients with DVT who were referred to Thrombosis and Homeostasis Laboratory affiliated to Iranian Blood Transfusion Organization. Also, 100 healthy individuals [blood donors] were recruited as control. Following DNA extraction and application of PCR and RFLP techniques in presence of restriction enzyme Cfo1, the genotypes of FXIII Val34Leu polymorphism were identified. The data were analyzed using chi square test as well as calculation of OD ratio and 95% confidence interval. The prevalence of FXIII Val34Leu polymorphism among the case and control groups was 22.4% and 37.4%, respectively. While the allele frequency of leucine in case group was 14.7% it was 20.2% in control group. No significant correlation between polymorphism and sex was established. According to our data, no association between the FXIII Val34Leu polymorphism and protection against deep vein thrombosis was demonstrated. Therefore, it seems that this polymorphism occurs as a natural phenomenon and unaffected by gender

Tolerance induction by CD40 silenced dendritic cells through antisense

One of the valuable tools for inhibiting the specific gene expression is antisense technique. To determine T cell responses, co-stimulatory molecule expression on the antigen presenting cells is important. In the present study, the effects of high affinity antisense against CD40 mRNA on the function and phenotype of DCs [dendritic cells] were investigated. The DCs were separated from the mice spleens and then cultured in vitro. By means of lipofectamine 2000, the antisense was delivered into the cells and the efficacy of transfection was estimated by flow cytometry. Also, the mRNA expression and protein synthesis were assessed by real time PCR and flow cytometry, respectively. The DCs were transfected with 6 M antisense and 2 l lipofectamine 2000. The percentage of CD40 expression in DCs was 38%. The results showed that CD40 expression is reduced in DCs to 22% and 24%. By annexine V and propidium iodine staining, we could evaluate the viability of the transfected cells. The inhibition of CD40 gene expression was associated with the increase in IL-4 secretion. This shifted the DCs to stimulate Th2 cytokine production from the allogenic T cells. In addition, in the MLR, the DCs without CD40 expression showed poor allostimulatory effects. This finding is valuable in the study of the costimulatory molecules of DCs. These data demonstrate that direct interference of the cell surface expression of CD40 at transcriptional level by antisense confers tolerogenecity potential of DCs. This approach is a useful tool through which DCs become tolerogenic and can be studied as a potential therapeutic option for the autoimmune diseases and allograft rejection

[ investigation on the relationship between periodontal disease and cigarette smoking in patients referred to clinics in the city of Kerman in 2002]

Aim and Background: the aim of the present investigation was to determine the relationship between smoking and periodontal disease in Kerman population

Methods and Materials: three hundred patients, referred to the clinics in the city of Kerman, were randomly selected and studied. The study was a cross - sectional, descriptive - analytic one consisting of 150 smoking samples [Case group] and 150 non - smoking samples [Controls], with the age range of under 20 to over 50. There was a correspondence between both groups in age and gender of the samples. None of the subjects and any systemic problems. For each patient, a questionnaire was completed by a trained person [Student] on personal characteristics, the number and duration of smoking. Periodontal status was examined by Williams probe, mirror, unit light and the measurement of periodontal disease index. If a tooth was not present, its distally located tooth was examined as its substitute. In this research, side - effects such as hairy tongue, mdeian rhomboid glossitis and halitosis were investigated as well

Results: the results revealed that the prevalence of periodontal diseases among smoking people are more than non - smoking ones [P<0.05]. Additionally, an increase in the duration and number of smoking results in more severe disease. The severity of the periodontal disease at the age range of [20-39] was more than other groups. The smoking chance of periodontally diseased people was 4.6 times more than others. To analyze the data, SPSS statistical software and X2, ANOVA, Kruskal wallis tests were used. The smoking people were also affected with median rhomboid glossitis 3.25 times more than non - smoking people. Halitosis and hairy tongue were observed among smoking subjects more than non-smoking ones

Conclusion: the present study showed a significant relationship between smoking and periodontal disease [P<0.005] Meaning that periodontal disease is more in smoking group than non - smoking